#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	A	A	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	A	A					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chrUnknown:0A>G								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								3629	SO:0001628	intergenic_variant	4535																															Unknown.37:g.0A>G			3629		Missense_Mutation	SNP	HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_1,PatternScan_COMPLEX1_ND1_2	p.T108A		37	c.322		MT																																																																																			-	HMMPfam_NADHdh	0	0					MT-ND1			A			3629	+1	no_errors	ENST00000361390	ensembl	human	known	54_36p	missense	SNP	NULL	G
MRPL28	10573	genome.wustl.edu	37	16	418370	418370	+	Silent	SNP	C	C	T	rs113936863	byFrequency	TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr16:418370C>T	ENST00000199706.8	-	5	656	c.621G>A	c.(619-621)acG>acA	p.T207T	MRPL28_ENST00000389675.2_Silent_p.T207T|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	207					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CCTCCTCCAGCGTGAGGCCCA	0.627																																																0			16						C		1,4405	2.1+/-5.4	0,1,2202	90.0	83.0	85.0		621	-6.2	0.4	16	dbSNP_132	85	0,8600		0,0,4300	no	coding-synonymous	MRPL28	NM_006428.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		207/257	418370	1,13005	2203	4300	6503	358371	SO:0001819	synonymous_variant	10573			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"""Mitochondrial ribosomal proteins / large subunits"""	14484	protein-coding gene	gene with protein product		604853	"""melanoma-associated antigen recognised by cytotoxic T lymphocytes"""	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.621G>A	16.37:g.418370C>T			358371	B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Silent	SNP	superfamily_P53_like_DNA_bnd	p.T207	ENST00000199706.8	37	c.621	CCDS32349.1	16																																																																																			-	NULL		0.627	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL28	protein_coding	OTTHUMT00000139285.2	C			358371	-1	no_errors	NM_006428	genbank	human	reviewed	54_36p	silent	SNP	0.973	T
GAK	2580	genome.wustl.edu	37	4	907421	907421	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr4:907421C>G	ENST00000314167.4	-	2	291	c.181G>C	c.(181-183)Ggg>Cgg	p.G61R	GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCCACTCCCCACATCTTGA	0.378																																																0			4											148.0	134.0	139.0					4																	907421		2203	4300	6503	897421	SO:0001583	missense	2580			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.181G>C	4.37:g.907421C>G	ENSP00000314499:p.Gly61Arg		897421	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ATP,PatternScan_DNAJ_1,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF52799,HMMPfam_PTEN_C2,superfamily_C2_CaLB,superfamily_DnaJ_N,HMMSmart_DnaJ,HMMPfam_DnaJ	p.G61R	ENST00000314167.4	37	c.181	CCDS3340.1	4	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992707	0.54041	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000502656	D;D	0.83914	-1.78;-1.78	4.48	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053907	0.64402	D	0.000001	T	0.76054	0.3934	N	0.02802	-0.49	0.58432	D	0.999999	D	0.67145	0.996	P	0.60886	0.88	T	0.77008	-0.2747	10	0.22706	T	0.39	-15.2133	15.0112	0.71552	0.0:1.0:0.0:0.0	.	61	O14976	GAK_HUMAN	R	61	ENSP00000314499:G61R;ENSP00000424701:G61R	ENSP00000314499:G61R	G	-	1	0	GAK	897421	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.902000	0.63266	2.202000	0.70862	0.436000	0.28706	GGG	-	superfamily_Kinase_like,HMMPfam_Pkinase		0.378	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	protein_coding	OTTHUMT00000239188.1	C	NM_005255		897421	-1	no_errors	NM_005255	genbank	human	validated	54_36p	missense	SNP	1.000	G
MIR212	406994	genome.wustl.edu	37	17	1953297	1953297	+	RNA	SNP	G	G	A	rs551930279	byFrequency	TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr17:1953297G>A	ENST00000586026.1	-	0	110				MIR132_ENST00000591554.1_RNA	NR_029625.1				microRNA 212																		GGAGACgcgggggcggggcgc	0.776													g|||	13	0.00259585	0.0015	0.0029	5008	,	,		4191	0.0		0.008	False		,,,				2504	0.001															0			17											4.0	3.0	3.0					17																	1953297		916	2212	3128	1900047			0					17p13.3	2014-05-20		2008-12-18	ENSG00000267195	ENSG00000267195		"""ncRNAs / Micro RNAs"""	31589	non-coding RNA	RNA, micro		613487		MIRN212			Standard	NR_029625		Approved	hsa-mir-212	uc010vqu.1		OTTHUMG00000180186		17.37:g.1953297G>A			1900047		RNA	SNP	-	NULL	ENST00000586026.1	37	NULL		17																																																																																			-	-		0.776	MIR212-001	KNOWN	basic	miRNA	MIRN132	miRNA	OTTHUMT00000450157.1	G	NR_029625		1900047	-1	no_errors	ENST00000384991	ensembl	human	known	54_36p	rna	SNP	1.000	A
LONP1	9361	genome.wustl.edu	37	19	5711914	5711914	+	Silent	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:5711914C>T	ENST00000360614.3	-	4	895	c.738G>A	c.(736-738)gcG>gcA	p.A246A	LONP1_ENST00000540670.2_Silent_p.A50A|LONP1_ENST00000593119.1_Silent_p.A182A|LONP1_ENST00000590729.1_Silent_p.A132A|LONP1_ENST00000585374.1_Silent_p.A132A	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTCGTCCTCCGCCTCCTTCT	0.657																																																0			19											48.0	48.0	48.0					19																	5711914		2203	4300	6503	5662914	SO:0001819	synonymous_variant	9361			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.738G>A	19.37:g.5711914C>T			5662914		Silent	SNP	HMMPfam_LON,HMMSmart_LON,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,HMMPfam_Lon_C,superfamily_Ribosomal_S5_D2-typ_fold,PatternScan_LON_SER	p.A246	ENST00000360614.3	37	c.738	CCDS12148.1	19																																																																																			-	HMMPfam_LON,HMMSmart_LON		0.657	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP1	protein_coding	OTTHUMT00000451662.1	C	NM_004793		5662914	-1	no_errors	NM_004793	genbank	human	reviewed	54_36p	silent	SNP	0.445	T
RNF207	388591	genome.wustl.edu	37	1	6266735	6266735	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:6266735G>A	ENST00000377939.4	+	2	267	c.140G>A	c.(139-141)gGc>gAc	p.G47D	RNF207_ENST00000377948.2_De_novo_Start_OutOfFrame|RP1-120G22.11_ENST00000455744.1_RNA	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	47						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTGTGCCGGCTGCCTGCGT	0.682																																																0			1											44.0	44.0	44.0					1																	6266735		2200	4299	6499	6189322	SO:0001583	missense	388591			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.140G>A	1.37:g.6266735G>A	ENSP00000367173:p.Gly47Asp		6189322	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain	p.G47D	ENST00000377939.4	37	c.140	CCDS59.2	1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561887	0.27915	.	.	ENSG00000158286	ENST00000377939	D	0.85556	-2.0	3.8	2.88	0.33553	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.215999	0.28125	U	0.016513	T	0.70107	0.3186	N	0.04043	-0.29	0.80722	D	1	P;D	0.56035	0.801;0.974	B;P	0.47402	0.438;0.546	T	0.65092	-0.6252	10	0.15952	T	0.53	-21.2261	10.0294	0.42092	0.1001:0.0:0.8999:0.0	.	47;47	Q6ZRF8;Q6ZRF8-2	RN207_HUMAN;.	D	47	ENSP00000367173:G47D	ENSP00000367173:G47D	G	+	2	0	RNF207	6189322	1.000000	0.71417	0.982000	0.44146	0.271000	0.26615	4.403000	0.59729	0.807000	0.34208	0.313000	0.20887	GGC	-	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1		0.682	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	protein_coding	OTTHUMT00000003669.2	G	NM_207396		6189322	+1	no_errors	NM_207396	genbank	human	validated	54_36p	missense	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACTCGGATAAGATGCTGAGG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)	17											97.0	87.0	90.0					17																	7578268		2203	4300	6503	7518993	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg		7518993	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.L194R	ENST00000269305.4	37	c.581	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		7518993	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
DNM2	1785	genome.wustl.edu	37	19	10939824	10939824	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:10939824G>A	ENST00000355667.6	+	19	2251	c.2171G>A	c.(2170-2172)cGc>cAc	p.R724H	DNM2_ENST00000389253.4_Missense_Mutation_p.R724H|DNM2_ENST00000359692.6_Missense_Mutation_p.R720H|DNM2_ENST00000314646.5_Missense_Mutation_p.R724H|DNM2_ENST00000408974.4_Missense_Mutation_p.R720H|DNM2_ENST00000585892.1_Missense_Mutation_p.R724H	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	724	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GACATGCTGCGCATGTACCAT	0.622			"""F, N, Splice, Mis, O"""		ETP ALL																																		Rec	yes		19	19p13.2	1785	dynamin 2		L	0			19											61.0	45.0	51.0					19																	10939824		2203	4300	6503	10800824	SO:0001583	missense	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2171G>A	19.37:g.10939824G>A	ENSP00000347890:p.Arg724His		10800824	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302	p.R724H	ENST00000355667.6	37	c.2171	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077477	0.36662	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	T;T;T	0.55930	0.49;0.49;0.49	5.06	2.93	0.34026	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.62154	1.92	0.54753	D	0.999988	B;B;B;B;B;B;D	0.89917	0.424;0.091;0.05;0.047;0.174;0.371;1.0	B;B;B;B;B;B;D	0.87578	0.125;0.067;0.209;0.117;0.067;0.168;0.998	T	0.65623	-0.6123	10	0.62326	D	0.03	.	10.1756	0.42937	0.1657:0.0:0.8343:0.0	.	318;724;453;720;720;724;724	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	H	720;720;724;724;724;331	ENSP00000386192:R720H;ENSP00000373905:R724H;ENSP00000313164:R724H	ENSP00000313164:R724H	R	+	2	0	DNM2	10800824	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	7.771000	0.85420	0.545000	0.28902	-0.373000	0.07131	CGC	-	HMMPfam_GED,HMMSmart_SM00302		0.622	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	protein_coding	OTTHUMT00000452592.1	G	NM_004945		10800824	+1	no_errors	NM_001005360	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
C12orf60	144608	genome.wustl.edu	37	12	14976320	14976320	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr12:14976320C>G	ENST00000330828.2	+	2	655	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	151										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CATCATGAATCTTCAATTAAG	0.428																																																0			12											83.0	83.0	83.0					12																	14976320		2203	4300	6503	14867587	SO:0001583	missense	144608			BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.451C>G	12.37:g.14976320C>G	ENSP00000331691:p.Leu151Val		14867587	A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	NULL	p.L151V	ENST00000330828.2	37	c.451	CCDS8667.1	12	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545784	0.65198	.	.	ENSG00000182993	ENST00000330828	T	0.19250	2.16	4.36	4.36	0.52297	.	0.000000	0.38605	N	0.001623	T	0.34716	0.0907	L	0.36672	1.1	0.33689	D	0.61305	D	0.89917	1.0	D	0.91635	0.999	T	0.44251	-0.9340	10	0.62326	D	0.03	-9.7844	12.6009	0.56497	0.0:1.0:0.0:0.0	.	151	Q5U649	CL060_HUMAN	V	151	ENSP00000331691:L151V	ENSP00000331691:L151V	L	+	1	0	C12orf60	14867587	0.979000	0.34478	1.000000	0.80357	0.967000	0.64934	3.306000	0.51881	2.427000	0.82271	0.561000	0.74099	CTT	-	NULL		0.428	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf60	protein_coding	OTTHUMT00000394735.1	C	NM_175874		14867587	+1	no_errors	NM_175874	genbank	human	validated	54_36p	missense	SNP	0.998	G
GNL1	2794	genome.wustl.edu	37	6	30513986	30513986	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr6:30513986A>G	ENST00000376621.3	-	12	2657	c.1687T>C	c.(1687-1689)Tcc>Ccc	p.S563P		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	563	Asp/Glu-rich (highly acidic).				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						tcctcacaggagctgctcagc	0.657																																																0			6											75.0	52.0	59.0					6																	30513986		2196	4295	6491	30621965	SO:0001583	missense	2794				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1687T>C	6.37:g.30513986A>G	ENSP00000365806:p.Ser563Pro		30621965	B0S838|Q96CT5	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1	p.S563P	ENST00000376621.3	37	c.1687	CCDS4680.1	6	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080057	0.76528	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.47528	0.84	5.11	5.11	0.69529	.	0.300594	0.28176	N	0.016318	T	0.42291	0.1196	N	0.24115	0.695	0.47905	D	0.999541	D;D;D	0.65815	0.995;0.984;0.995	D;D;D	0.70487	0.969;0.969;0.969	T	0.36286	-0.9754	10	0.33141	T	0.24	-24.1059	14.0121	0.64503	1.0:0.0:0.0:0.0	.	561;360;563	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	P	563;385;360	ENSP00000365806:S563P	ENSP00000365806:S563P	S	-	1	0	GNL1	30621965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.345000	0.59360	2.148000	0.66965	0.459000	0.35465	TCC	-	NULL		0.657	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL1	protein_coding	OTTHUMT00000076241.2	A			30621965	-1	no_errors	NM_005275	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ZNF646	9726	genome.wustl.edu	37	16	31089129	31089129	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr16:31089129C>T	ENST00000394979.2	+	1	1907	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	ZNF646_ENST00000300850.5_Missense_Mutation_p.S495L			O15015	ZN646_HUMAN	zinc finger protein 646	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TACCAGTGCTCACTCTGTCCC	0.617																																																0			16											74.0	69.0	71.0					16																	31089129		2197	4300	6497	30996630	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1484C>T	16.37:g.31089129C>T	ENSP00000378429:p.Ser495Leu		30996630	Q8IVD8	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.S495L	ENST00000394979.2	37	c.1484		16	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002983	0.74932	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.30714	1.52;1.52	5.63	5.63	0.86233	.	.	.	.	.	T	0.50188	0.1601	L	0.41961	1.31	0.51012	D	0.999905	D	0.89917	1.0	D	0.91635	0.999	T	0.44034	-0.9354	9	0.56958	D	0.05	-7.8893	18.4362	0.90646	0.0:1.0:0.0:0.0	.	495	O15015-2	.	L	495	ENSP00000300850:S495L;ENSP00000378429:S495L	ENSP00000300850:S495L	S	+	2	0	ZNF646	30996630	0.649000	0.27322	0.531000	0.27976	0.604000	0.37047	2.987000	0.49378	2.651000	0.90000	0.655000	0.94253	TCA	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.617	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	protein_coding	OTTHUMT00000108510.2	C	NM_014699		30996630	+1	no_errors	NM_014699	genbank	human	validated	54_36p	missense	SNP	0.999	T
LINC00273	649159	genome.wustl.edu	37	16	33961684	33961684	+	lincRNA	SNP	G	G	T	rs76218310	byFrequency	TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr16:33961684G>T	ENST00000539813.1	-	0	819				AC136932.1_ENST00000385251.1_RNA	NR_038368.1				long intergenic non-protein coding RNA 273											lung(1)	1						CCTAGGCGGGGCGCCGCGGGA	0.706																																																0			16																																								33869185			649159			AY587847		16p11.2	2013-06-03	2011-08-11	2011-08-11	ENSG00000256642	ENSG00000256642		"""Long non-coding RNAs"""	38595	other	unknown	"""non-protein coding RNA 273-1"""		"""non-protein coding RNA 273"""	NCRNA00273			Standard	NR_038368		Approved	TOP, NCRNA00273-1	uc021thl.1		OTTHUMG00000176379		16.37:g.33961684G>T			33869185		RNA	SNP	-	NULL	ENST00000539813.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	g	5.546	0.285578	0.10513	.	.	ENSG00000256642	ENST00000539813	.	.	.	.	.	.	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26467	-1.0102	2	.	.	.	.	.	.	.	.	.	.	.	T	253	.	.	P	-	1	0	AC136932.2	33869185	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	0.125000	0.15749	0.119000	0.18210	0.121000	0.15741	CCC	-	-		0.706	LINC00273-001	KNOWN	basic	lincRNA	TOP	lincRNA	OTTHUMT00000431840.1	G	NR_038368		33869185	-1	no_errors	XR_041241	genbank	human	model	54_36p	rna	SNP	0.014	T
KCNJ4	3761	genome.wustl.edu	37	22	38823296	38823296	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr22:38823296G>A	ENST00000303592.3	-	2	1100	c.842C>T	c.(841-843)tCg>tTg	p.S281L	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	281					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AAAGTCCTCCGACTCCAGCTC	0.622																																																0			22											78.0	64.0	69.0					22																	38823296		2203	4300	6503	37153242	SO:0001583	missense	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.842C>T	22.37:g.38823296G>A	ENSP00000306497:p.Ser281Leu		37153242	Q14D44	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_IRK,superfamily_Ig_E-set	p.S281L	ENST00000303592.3	37	c.842	CCDS13971.1	22	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199177	0.38806	.	.	ENSG00000168135	ENST00000303592	D	0.94138	-3.36	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.578206	0.17440	N	0.174150	D	0.89567	0.6752	L	0.34521	1.04	0.28481	N	0.914949	B	0.32425	0.371	B	0.33568	0.166	D	0.86106	0.1559	10	0.56958	D	0.05	.	13.7342	0.62807	0.0:0.2832:0.7167:0.0	.	281	P48050	IRK4_HUMAN	L	281	ENSP00000306497:S281L	ENSP00000306497:S281L	S	-	2	0	KCNJ4	37153242	0.997000	0.39634	0.984000	0.44739	0.977000	0.68977	2.741000	0.47426	2.472000	0.83506	0.555000	0.69702	TCG	-	HMMPfam_IRK,superfamily_Ig_E-set		0.622	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	protein_coding	OTTHUMT00000321447.1	G	NM_004981		37153242	-1	no_errors	NM_004981	genbank	human	reviewed	54_36p	missense	SNP	0.950	A
ZC3H7B	23264	genome.wustl.edu	37	22	41735127	41735127	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr22:41735127G>A	ENST00000352645.4	+	9	1005	c.748G>A	c.(748-750)Gac>Aac	p.D250N	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D250N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	266					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCCCAGCACCGACAGCCTGGA	0.662																																																0			22											98.0	84.0	88.0					22																	41735127		2203	4300	6503	40065073	SO:0001583	missense	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.748G>A	22.37:g.41735127G>A	ENSP00000345793:p.Asp250Asn		40065073	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF90229,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,HMMSmart_ZnF_C2H2	p.D250N	ENST00000352645.4	37	c.748	CCDS14013.1	22	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048891	0.36181	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.11604	2.76;2.76	4.98	4.98	0.66077	.	0.185402	0.45867	D	0.000323	T	0.07143	0.0181	N	0.14661	0.345	0.31091	N	0.71081	B	0.28933	0.228	B	0.20184	0.028	T	0.09975	-1.0650	10	0.15066	T	0.55	-25.9826	18.2407	0.89967	0.0:0.0:1.0:0.0	.	250	Q9UGR2-2	.	N	250	ENSP00000345793:D250N;ENSP00000263243:D250N	ENSP00000263243:D250N	D	+	1	0	ZC3H7B	40065073	1.000000	0.71417	0.852000	0.33557	0.604000	0.37047	6.674000	0.74487	2.286000	0.76751	0.561000	0.74099	GAC	-	NULL		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	protein_coding	OTTHUMT00000320696.1	G	NM_017590		40065073	+1	no_errors	NM_017590	genbank	human	reviewed	54_36p	missense	SNP	0.906	A
CLIP3	25999	genome.wustl.edu	37	19	36509905	36509905	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:36509905T>A	ENST00000360535.4	-	9	1305	c.1078A>T	c.(1078-1080)Atc>Ttc	p.I360F	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.I360F	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	360					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCTTGGAGATCTTGGACACG	0.632																																																0			19											66.0	71.0	69.0					19																	36509905		2203	4300	6503	41201745	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1078A>T	19.37:g.36509905T>A	ENSP00000353732:p.Ile360Phe		41201745	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1	p.I360F	ENST00000360535.4	37	c.1078	CCDS12486.1	19	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995019	0.74703	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.75938	-0.98	4.87	2.66	0.31614	Cytoskeleton-associated protein, Gly-rich domain (3);	0.116510	0.56097	D	0.000024	T	0.69160	0.3080	M	0.70842	2.15	0.58432	D	0.999993	B	0.33044	0.395	B	0.33521	0.165	T	0.68812	-0.5310	10	0.66056	D	0.02	-25.1611	6.6082	0.22737	0.0:0.2276:0.0:0.7724	.	360	Q96DZ5	CLIP3_HUMAN	F	360;242;336	ENSP00000353732:I360F	ENSP00000353732:I360F	I	-	1	0	CLIP3	41201745	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.060000	0.57477	0.919000	0.36945	0.528000	0.53228	ATC	-	superfamily_Cap-Gly domain,HMMPfam_CAP_GLY		0.632	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	protein_coding	OTTHUMT00000457426.1	T	NM_015526		41201745	-1	no_errors	NM_015526	genbank	human	provisional	54_36p	missense	SNP	1.000	A
SMAD2	4087	genome.wustl.edu	37	18	45394716	45394716	+	Silent	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr18:45394716C>T	ENST00000402690.2	-	5	1027	c.633G>A	c.(631-633)gaG>gaA	p.E211E	SMAD2_ENST00000591214.1_Silent_p.E181E|SMAD2_ENST00000262160.6_Silent_p.E211E|SMAD2_ENST00000586040.1_Silent_p.E181E|SMAD2_ENST00000356825.4_Silent_p.E181E|SMAD2_ENST00000587353.1_5'UTR	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	211					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TACTCTGTGGCTCAATTCCTG	0.388																																																0			18											114.0	111.0	112.0					18																	45394716		2203	4300	6503	43648714	SO:0001819	synonymous_variant	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.633G>A	18.37:g.45394716C>T			43648714		Silent	SNP	superfamily_SMAD MH1 domain,HMMSmart_SM00523,HMMPfam_MH1,superfamily_SMAD/FHA domain,HMMPfam_MH2,HMMSmart_SM00524	p.E211	ENST00000402690.2	37	c.633	CCDS11934.1	18																																																																																			-	NULL		0.388	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD2	protein_coding	OTTHUMT00000450571.1	C	NM_005901		43648714	-1	no_errors	NM_001003652	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
XRCC1	7515	genome.wustl.edu	37	19	44065143	44065143	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:44065143C>T	ENST00000594374.1	-	2	198	c.199G>A	c.(199-201)Gga>Aga	p.G67R	XRCC1_ENST00000543982.1_Silent_p.V27V|XRCC1_ENST00000262887.5_Silent_p.V58V																							TCCCAATGTCCACACTGTGTA	0.572																																																0			19											278.0	199.0	226.0					19																	44065143		2203	4300	6503	48756983	SO:0001583	missense	7515																														ENST00000594374.1:c.199G>A	19.37:g.44065143C>T	ENSP00000472698:p.Gly67Arg		48756983		Silent	SNP	HMMPfam_XRCC1_N,superfamily_Galactose-binding domain-like,superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292	p.V58	ENST00000594374.1	37	c.174		19																																																																																			-	HMMPfam_XRCC1_N,superfamily_Galactose-binding domain-like		0.572	L34079.2-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	XRCC1	protein_coding	OTTHUMT00000463203.1	C			48756983	-1	no_errors	NM_006297	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
SNX20	124460	genome.wustl.edu	37	16	50707906	50707906	+	Missense_Mutation	SNP	G	G	A	rs376792548		TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr16:50707906G>A	ENST00000330943.4	-	4	533	c.362C>T	c.(361-363)gCg>gTg	p.A121V	RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570167.1_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	121	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTGGAGCTTCGCGAAGTCGGA	0.552																																																0			16											76.0	70.0	72.0					16																	50707906		2198	4300	6498	49265407	SO:0001583	missense	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.362C>T	16.37:g.50707906G>A	ENSP00000332062:p.Ala121Val		49265407	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312	p.A121V	ENST00000330943.4	37	c.362	CCDS10745.1	16	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480372	0.26598	.	.	ENSG00000167208	ENST00000330943	T	0.37752	1.18	5.53	4.44	0.53790	Phox homologous domain (5);	0.194498	0.46758	D	0.000277	T	0.15998	0.0385	N	0.08118	0	0.24902	N	0.992099	P	0.36535	0.557	B	0.25987	0.065	T	0.08371	-1.0725	10	0.27785	T	0.31	-23.0074	11.3423	0.49539	0.0:0.0:0.1596:0.8404	.	121	Q7Z614	SNX20_HUMAN	V	121	ENSP00000332062:A121V	ENSP00000332062:A121V	A	-	2	0	SNX20	49265407	0.995000	0.38212	0.714000	0.30535	0.128000	0.20619	2.509000	0.45459	0.945000	0.37605	-0.397000	0.06425	GCG	-	superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312		0.552	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	protein_coding	OTTHUMT00000256879.2	G	NM_153337		49265407	-1	no_errors	NM_182854	genbank	human	validated	54_36p	missense	SNP	0.648	A
INTS6-AS1	100507398	genome.wustl.edu	37	13	52035089	52035089	+	RNA	SNP	A	A	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr13:52035089A>G	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594604.1_RNA					INTS6 antisense RNA 1																		GTGACTCATGATGGTCGCACC	0.428																																																0			13																																								50933090			220433			AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035089A>G			50933090		RNA	SNP	-	NULL	ENST00000594959.1	37	NULL		13																																																																																			-	-		0.428	INTS6-AS1-006	KNOWN	basic	antisense	LOC220433	antisense	OTTHUMT00000462289.1	A			50933090	+1	pseudogene	XR_041057	genbank	human	model	54_36p	rna	SNP	1.000	G
ST18	9705	genome.wustl.edu	37	8	53028906	53028906	+	Silent	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr8:53028906G>A	ENST00000276480.7	-	25	3615	c.2932C>T	c.(2932-2934)Ctg>Ttg	p.L978L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	978					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTTTCAGCAGACTTTCATTG	0.438																																																0			8											239.0	171.0	194.0					8																	53028906		2203	4300	6503	53191459	SO:0001819	synonymous_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2932C>T	8.37:g.53028906G>A			53191459	Q17RY1	Silent	SNP	superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1	p.L978	ENST00000276480.7	37	c.2932	CCDS6149.1	8																																																																																			-	NULL		0.438	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	G			53191459	-1	no_errors	NM_014682	genbank	human	validated	54_36p	silent	SNP	1.000	A
HSD17B14	51171	genome.wustl.edu	37	19	49316751	49316751	+	Missense_Mutation	SNP	C	C	G			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr19:49316751C>G	ENST00000263278.4	-	8	867	c.601G>C	c.(601-603)Gac>Cac	p.D201H	HSD17B14_ENST00000599157.1_Missense_Mutation_p.D177H|BCAT2_ENST00000598162.1_5'Flank|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000402551.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000601496.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	201					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GCCCTAGGGTCTGGCATTAAG	0.597																																																0			19											74.0	57.0	63.0					19																	49316751		2203	4300	6503	54008563	SO:0001583	missense	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.601G>C	19.37:g.49316751C>G	ENSP00000263278:p.Asp201His		54008563	Q9UKU3	Missense_Mutation	SNP	superfamily_NAD(P)-bd,HMMPfam_adh_short,PatternScan_ADH_SHORT	p.D201H	ENST00000263278.4	37	c.601	CCDS12736.1	19	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327247	0.60743	.	.	ENSG00000087076	ENST00000263278	T	0.22743	1.94	4.54	2.27	0.28462	NAD(P)-binding domain (1);	0.175295	0.48286	D	0.000194	T	0.26340	0.0643	N	0.25245	0.725	0.45307	D	0.998306	D	0.89917	1.0	D	0.72982	0.979	T	0.02950	-1.1090	10	0.72032	D	0.01	.	7.0096	0.24855	0.0:0.563:0.3428:0.0943	.	201	Q9BPX1	DHB14_HUMAN	H	201	ENSP00000263278:D201H	ENSP00000263278:D201H	D	-	1	0	HSD17B14	54008563	0.755000	0.28372	0.707000	0.30419	0.122000	0.20287	1.204000	0.32296	0.558000	0.29135	0.462000	0.41574	GAC	-	superfamily_NAD(P)-bd		0.597	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B14	protein_coding	OTTHUMT00000466212.1	C	NM_016246		54008563	-1	no_errors	NM_016246	genbank	human	validated	54_36p	missense	SNP	0.880	G
VPS37C	55048	genome.wustl.edu	37	11	60899428	60899428	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr11:60899428T>C	ENST00000301765.5	-	5	1164	c.932A>G	c.(931-933)tAc>tGc	p.Y311C		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	311	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CTGTATTGGGTAGGGAGGTTT	0.672																																																0			11											38.0	36.0	37.0					11																	60899428		2033	3970	6003	60656004	SO:0001583	missense	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.932A>G	11.37:g.60899428T>C	ENSP00000301765:p.Tyr311Cys		60656004	Q8N3K4	Missense_Mutation	SNP	HMMPfam_Mod_r	p.Y311C	ENST00000301765.5	37	c.932	CCDS31573.1	11	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044376	0.55110	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.54279	0.58	4.66	4.66	0.58398	.	0.233333	0.37219	N	0.002181	T	0.59445	0.2194	L	0.29908	0.895	0.38304	D	0.943061	D	0.89917	1.0	D	0.83275	0.996	T	0.62737	-0.6791	10	0.40728	T	0.16	-9.7874	12.6711	0.56868	0.0:0.0:0.0:1.0	.	311	A5D8V6	VP37C_HUMAN	C	311	ENSP00000301765:Y311C	ENSP00000301765:Y311C	Y	-	2	0	VPS37C	60656004	1.000000	0.71417	0.992000	0.48379	0.538000	0.34931	5.311000	0.65786	1.731000	0.51592	0.260000	0.18958	TAC	-	NULL		0.672	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37C	protein_coding	OTTHUMT00000396467.1	T	NM_017966		60656004	-1	no_errors	NM_017966	genbank	human	validated	54_36p	missense	SNP	0.997	C
RBM25	58517	genome.wustl.edu	37	14	73554800	73554800	+	Silent	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr14:73554800C>T	ENST00000261973.7	+	6	759	c.474C>T	c.(472-474)ctC>ctT	p.L158L	RBM25_ENST00000525321.1_Silent_p.L158L|RBM25_ENST00000540173.1_Silent_p.L158L|RBM25_ENST00000526754.1_Silent_p.L158L|RBM25_ENST00000527432.1_Silent_p.L158L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	158	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAAAGCTACTCGTTAAAGTTG	0.423																																																0			14											157.0	155.0	155.0					14																	73554800		2203	4300	6503	72624553	SO:0001819	synonymous_variant	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.474C>T	14.37:g.73554800C>T			72624553	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI	p.L158	ENST00000261973.7	37	c.474	CCDS32113.1	14																																																																																			-	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1		0.423	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	protein_coding	OTTHUMT00000394966.1	C	XM_027330		72624553	+1	no_errors	NM_021239	genbank	human	validated	54_36p	silent	SNP	0.995	T
DLG5	9231	genome.wustl.edu	37	10	79576407	79576407	+	Silent	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr10:79576407G>A	ENST00000372391.2	-	20	3932	c.3927C>T	c.(3925-3927)atC>atT	p.I1309I	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.I969I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1309					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACAGGGTGTCGATGTTCAGGG	0.582																																																0			10											195.0	166.0	176.0					10																	79576407		2203	4300	6503	79246413	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3927C>T	10.37:g.79576407G>A			79246413	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	superfamily_DEATH domain,HMMPfam_CARD,HMMPfam_DUF622,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,PatternScan_RCC1_2,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C	p.I1309	ENST00000372391.2	37	c.3927	CCDS7353.2	10																																																																																			-	NULL		0.582	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	protein_coding	OTTHUMT00000048900.2	G			79246413	-1	no_errors	NM_004747	genbank	human	reviewed	54_36p	silent	SNP	0.953	A
ZMIZ1	57178	genome.wustl.edu	37	10	81070809	81070809	+	Silent	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr10:81070809G>A	ENST00000334512.5	+	24	3536	c.2964G>A	c.(2962-2964)caG>caA	p.Q988Q	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	988	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTCCTTCCCAGCCTCCCCGGC	0.647																																																0			10											76.0	87.0	83.0					10																	81070809		2203	4300	6503	80740815	SO:0001819	synonymous_variant	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2964G>A	10.37:g.81070809G>A			80740815	Q5JSH9|Q7Z7E6	Silent	SNP	superfamily_RING/U-box,HMMPfam_zf-MIZ	p.Q988	ENST00000334512.5	37	c.2964	CCDS7357.1	10																																																																																			-	NULL		0.647	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	protein_coding	OTTHUMT00000048944.2	G	NM_020338		80740815	+1	no_errors	NM_020338	genbank	human	validated	54_36p	silent	SNP	1.000	A
DENND2C	163259	genome.wustl.edu	37	1	115130079	115130079	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:115130079C>T	ENST00000393274.1	-	20	3309	c.2684G>A	c.(2683-2685)cGg>cAg	p.R895Q	DENND2C_ENST00000393276.3_Missense_Mutation_p.R838Q|DENND2C_ENST00000393277.1_Missense_Mutation_p.R783Q|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	895					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R838L(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGATGGCCCGGATCTCAAA	0.408																																																1	Substitution - Missense(1)	lung(1)	1											106.0	118.0	114.0					1																	115130079		2203	4300	6503	114931602	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2684G>A	1.37:g.115130079C>T	ENSP00000376955:p.Arg895Gln		114931602	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	HMMPfam_uDENN,HMMSmart_uDENN,HMMPfam_DENN,HMMSmart_DENN,HMMPfam_dDENN,HMMSmart_dDENN	p.R838Q	ENST00000393274.1	37	c.2513	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.644292	0.96704	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.11277	3.56;3.25;2.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	M	0.68593	2.085	0.33482	D	0.587544	D;D	0.89917	1.0;1.0	D;D	0.81914	0.984;0.995	T	0.01341	-1.1380	10	0.87932	D	0	.	17.7434	0.88413	0.0:1.0:0.0:0.0	.	895;838	Q68D51;Q68D51-3	DEN2C_HUMAN;.	Q	838;895;895;783	ENSP00000376957:R838Q;ENSP00000376955:R895Q;ENSP00000376958:R783Q	ENSP00000358553:R895Q	R	-	2	0	DENND2C	114931602	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.252000	0.78309	2.619000	0.88677	0.650000	0.86243	CGG	-	NULL		0.408	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	protein_coding	OTTHUMT00000314822.1	C	NM_198459		114931602	-1	no_errors	NM_198459	genbank	human	validated	54_36p	missense	SNP	1.000	T
AMPD1	270	genome.wustl.edu	37	1	115220097	115220097	+	Missense_Mutation	SNP	A	A	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:115220097A>T	ENST00000520113.2	-	10	1377	c.1362T>A	c.(1360-1362)caT>caA	p.H454Q	AMPD1_ENST00000353928.6_Missense_Mutation_p.H421Q|AMPD1_ENST00000369538.3_Missense_Mutation_p.H450Q			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	454					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGGGCTCAGCATGCTGGTACT	0.577																																																0			1											89.0	76.0	81.0					1																	115220097		2203	4300	6503	115021620	SO:0001583	missense	270			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1362T>A	1.37:g.115220097A>T	ENSP00000430075:p.His454Gln		115021620	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	superfamily_SSF51556,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE	p.H421Q	ENST00000520113.2	37	c.1263	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223131	0.58668	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82433	-1.61;-1.61;-1.61	5.85	-7.09	0.01553	Adenosine/AMP deaminase (1);	0.048033	0.85682	D	0.000000	T	0.72803	0.3506	L	0.58583	1.82	0.39382	D	0.966274	P;B	0.50369	0.934;0.205	P;B	0.48425	0.577;0.139	T	0.79829	-0.1638	10	0.30078	T	0.28	-25.2123	17.4035	0.87467	0.4388:0.0:0.5612:0.0	.	450;421	Q5TF02;P23109	.;AMPD1_HUMAN	Q	454;450;421	ENSP00000430075:H454Q;ENSP00000358551:H450Q;ENSP00000316520:H421Q	ENSP00000316520:H421Q	H	-	3	2	AMPD1	115021620	0.046000	0.20272	0.731000	0.30826	0.992000	0.81027	-0.587000	0.05780	-0.954000	0.03640	-0.366000	0.07423	CAT	-	superfamily_SSF51556,HMMPfam_A_deaminase		0.577	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	protein_coding	OTTHUMT00000032860.4	A			115021620	-1	no_errors	NM_000036	genbank	human	reviewed	54_36p	missense	SNP	0.969	T
PLEKHB2	55041	genome.wustl.edu	37	2	132110093	132110093	+	Intron	SNP	C	C	T	rs548256399		TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr2:132110093C>T	ENST00000404460.1	+	7	477				PLEKHB2_ENST00000303908.3_Intron			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2							endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TGCCGGCTCCCGGGCCCATGT	0.617													.|||	1	0.000199681	0.0	0.0014	5008	,	,		13663	0.0		0.0	False		,,,				2504	0.0															0			2																																								131826563	SO:0001627	intron_variant	401002				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000404460.1:c.424-500C>T	2.37:g.132110093C>T			131826563	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	RNA	SNP	-	NULL	ENST00000404460.1	37	NULL		2																																																																																			-	-		0.617	PLEKHB2-002	KNOWN	basic	protein_coding	LOC401002	protein_coding	OTTHUMT00000318943.2	C	NM_017958		131826563	-1	pseudogene	XR_039216	genbank	human	model	54_36p	rna	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	4	135967348	135967348	+	IGR	SNP	G	G	C			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr4:135967348G>C								RP11-192C21.2 (112062 upstream) : RP11-553P9.2 (21039 downstream)																							CAACTGAGAAGCCCATGTGCC	0.483																																																0			4																																								136186798	SO:0001628	intergenic_variant	389223																															4.37:g.135967348G>C			136186798		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.483					LOC389223			G			136186798	+1	pseudogene	XR_017535	genbank	human	model	54_36p	rna	SNP	1.000	C
PCDHA3	56145	genome.wustl.edu	37	5	140181289	140181289	+	Silent	SNP	T	T	G	rs575847479		TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr5:140181289T>G	ENST00000522353.2	+	1	507	c.507T>G	c.(505-507)acT>acG	p.T169T	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T169T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGTTGACTTACAGTCTTG	0.393																																																0			5											75.0	80.0	78.0					5																	140181289		2203	4300	6503	140161473	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.507T>G	5.37:g.140181289T>G			140161473	O75286	Silent	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.T169	ENST00000522353.2	37	c.507	CCDS54915.1	5																																																																																			-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.393	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	protein_coding	OTTHUMT00000372848.2	T	NM_018906		140161473	+1	no_errors	NM_018906	genbank	human	reviewed	54_36p	silent	SNP	0.052	G
ZIC1	7545	genome.wustl.edu	37	3	147128703	147128703	+	Silent	SNP	T	T	C			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr3:147128703T>C	ENST00000282928.4	+	1	1533	c.804T>C	c.(802-804)aaT>aaC	p.N268N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	268					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCAGAGTAATCACATCTGCT	0.562																																																0			3											110.0	107.0	108.0					3																	147128703		2203	4300	6503	148611393	SO:0001819	synonymous_variant	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.804T>C	3.37:g.147128703T>C			148611393	Q2M3N1	Silent	SNP	HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.N268	ENST00000282928.4	37	c.804	CCDS3136.1	3																																																																																			-	NULL		0.562	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	protein_coding	OTTHUMT00000355497.1	T	NM_003412		148611393	+1	no_errors	NM_003412	genbank	human	validated	54_36p	silent	SNP	1.000	C
WWTR1	25937	genome.wustl.edu	37	3	149290738	149290738	+	Missense_Mutation	SNP	G	G	C			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr3:149290738G>C	ENST00000465804.1	-	4	737	c.481C>G	c.(481-483)Cag>Gag	p.Q161E	WWTR1_ENST00000467467.1_Missense_Mutation_p.Q161E|WWTR1_ENST00000360632.3_Missense_Mutation_p.Q161E	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	161					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTCAGAGGCTGATTCATCGCC	0.443			T	CAMTA1	epitheliod hemangioendothelioma																																		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0			3											158.0	144.0	149.0					3																	149290738		2203	4300	6503	150773428	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.481C>G	3.37:g.149290738G>C	ENSP00000419465:p.Gln161Glu		150773428	D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1	p.Q161E	ENST00000465804.1	37	c.481	CCDS3144.1	3	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362262	0.61403	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417;ENST00000479238	T;T;T;T	0.48201	0.82;0.82;0.82;0.83	5.55	5.55	0.83447	WW/Rsp5/WWP (1);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	L	0.51422	1.61	0.46131	D	0.998882	P	0.37708	0.606	B	0.28784	0.094	T	0.40515	-0.9559	10	0.02654	T	1	-3.9968	19.1095	0.93312	0.0:0.0:1.0:0.0	.	161	Q9GZV5	WWTR1_HUMAN	E	161;161;161;19;161	ENSP00000419465:Q161E;ENSP00000353847:Q161E;ENSP00000419234:Q161E;ENSP00000418580:Q161E	ENSP00000353847:Q161E	Q	-	1	0	WWTR1	150773428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.245000	0.65405	2.618000	0.88619	0.655000	0.94253	CAG	-	NULL		0.443	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWTR1	protein_coding	OTTHUMT00000356498.1	G	NM_015472		150773428	-1	no_errors	NM_015472	genbank	human	provisional	54_36p	missense	SNP	1.000	C
NAF1	92345	genome.wustl.edu	37	4	164061530	164061530	+	Silent	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr4:164061530G>A	ENST00000274054.2	-	5	916	c.723C>T	c.(721-723)ttC>ttT	p.F241F	NAF1_ENST00000422287.2_Silent_p.F241F|NAF1_ENST00000509434.1_5'Flank	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	241					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CAAATATCTCGAATATCTGTA	0.303																																																0			4											71.0	78.0	75.0					4																	164061530		2203	4292	6495	164280980	SO:0001819	synonymous_variant	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.723C>T	4.37:g.164061530G>A			164280980	D3DP28|E9PAZ2	Silent	SNP	HMMPfam_NAF1	p.F241	ENST00000274054.2	37	c.723	CCDS3803.1	4																																																																																			-	HMMPfam_NAF1		0.303	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	protein_coding	OTTHUMT00000364684.2	G	NM_138386		164280980	-1	no_errors	NM_138386	genbank	human	validated	54_36p	silent	SNP	1.000	A
NLGN1	22871	genome.wustl.edu	37	3	173996816	173996816	+	Missense_Mutation	SNP	T	T	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr3:173996816T>A	ENST00000457714.1	+	6	1454	c.1025T>A	c.(1024-1026)cTt>cAt	p.L342H	NLGN1_ENST00000545397.1_Missense_Mutation_p.L342H|NLGN1_ENST00000361589.4_Missense_Mutation_p.L342H|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.L382H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	359					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACAAAGAACTTGTTGACCAA	0.423																																																0			3											212.0	190.0	197.0					3																	173996816		2203	4300	6503	175479510	SO:0001583	missense	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1025T>A	3.37:g.173996816T>A	ENSP00000392500:p.Leu342His		175479510	Q9UPT2	Missense_Mutation	SNP	HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2	p.L342H	ENST00000457714.1	37	c.1025	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969725	0.74246	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94133	0.7390	10	0.87932	D	0	.	16.0817	0.81010	0.0:0.0:0.0:1.0	.	382;342	D2X2H5;Q8N2Q7-2	.;.	H	342;342;342;382	ENSP00000392500:L342H;ENSP00000354541:L342H;ENSP00000441108:L342H;ENSP00000385750:L382H	ENSP00000354541:L342H	L	+	2	0	NLGN1	175479510	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.206000	0.71126	0.383000	0.25322	CTT	-	HMMPfam_COesterase,superfamily_SSF53474		0.423	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	protein_coding	OTTHUMT00000347054.3	T	NM_014932		175479510	+1	no_errors	NM_014932	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KCTD18	130535	genome.wustl.edu	37	2	201355033	201355033	+	Silent	SNP	C	C	T	rs569262259		TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr2:201355033C>T	ENST00000359878.3	-	7	1581	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	KCTD18_ENST00000468413.1_5'Flank|KCTD18_ENST00000409157.1_Silent_p.T357T	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	357					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGGTAAGTGCGTGCCTCCAT	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18119	0.0		0.0	False		,,,				2504	0.0															0			2											84.0	80.0	81.0					2																	201355033		2203	4300	6503	201063278	SO:0001819	synonymous_variant	130535			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1071G>A	2.37:g.201355033C>T			201063278	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Silent	SNP	superfamily_POZ domain,HMMPfam_K_tetra	p.T357	ENST00000359878.3	37	c.1071	CCDS2330.1	2																																																																																			-	NULL		0.647	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	protein_coding	OTTHUMT00000256188.1	C	NM_152387		201063278	-1	no_errors	NM_152387	genbank	human	validated	54_36p	silent	SNP	0.000	T
RCOR3	55758	genome.wustl.edu	37	1	211469095	211469095	+	Splice_Site	SNP	G	G	A			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:211469095G>A	ENST00000367005.4	+	8	984	c.843G>A	c.(841-843)gaG>gaA	p.E281E	RCOR3_ENST00000452621.2_Splice_Site_p.E339E|RCOR3_ENST00000367006.4_Splice_Site_p.E339E|RCOR3_ENST00000419091.2_Splice_Site_p.E339E	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AACCTCCTGAGGTATGTTATT	0.343																																																0			1											97.0	95.0	96.0					1																	211469095		2203	4300	6503	209535718	SO:0001630	splice_region_variant	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.843+1G>A	1.37:g.211469095G>A			209535718	B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	HMMPfam_ELM2,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding	p.E281	ENST00000367005.4	37	c.843	CCDS31016.1	1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358993	0.41801	.	.	ENSG00000117625	ENST00000534460	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	T	0.72236	0.3435	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70722	-0.4794	4	.	.	.	-16.0394	16.6993	0.85344	0.0:0.0:1.0:0.0	.	.	.	.	S	126	.	.	G	+	1	0	RCOR3	209535718	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.338000	0.96553	2.680000	0.91292	0.655000	0.94253	GGC	-	NULL		0.343	RCOR3-001	KNOWN	basic|CCDS	protein_coding	RCOR3	protein_coding	OTTHUMT00000089821.1	G	NM_018254	Silent	209535718	+1	no_errors	NM_018254	genbank	human	validated	54_36p	silent	SNP	1.000	A
ENAH	55740	genome.wustl.edu	37	1	225695656	225695656	+	Missense_Mutation	SNP	G	G	T			TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr1:225695656G>T	ENST00000366844.3	-	11	1986	c.1535C>A	c.(1534-1536)tCc>tAc	p.S512Y	ENAH_ENST00000284563.6_Missense_Mutation_p.S759Y|ENAH_ENST00000366843.2_Missense_Mutation_p.S512Y	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	512	EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTGATACCTGGAGATAACAGG	0.239																																																0			1											85.0	92.0	89.0					1																	225695656		2201	4295	6496	223762279	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1535C>A	1.37:g.225695656G>T	ENSP00000355809:p.Ser512Tyr		223762279	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like,HMMPfam_VASP_tetra	p.S512Y	ENST00000366844.3	37	c.1535	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589299	0.66105	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;D	0.87809	0.87;1.51;-2.3	5.11	5.11	0.69529	.	0.160438	0.42294	D	0.000733	D	0.86560	0.5962	N	0.08118	0	0.39152	D	0.962237	D;D	0.62365	0.991;0.967	D;P	0.65010	0.931;0.886	D	0.90756	0.4661	10	0.87932	D	0	.	18.5235	0.90962	0.0:0.0:1.0:0.0	.	512;512	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	Y	512;512;759;474	ENSP00000355809:S512Y;ENSP00000355808:S512Y;ENSP00000284563:S759Y	ENSP00000284563:S759Y	S	-	2	0	ENAH	223762279	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.311000	0.72835	2.355000	0.79922	0.467000	0.42956	TCC	-	NULL		0.239	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	protein_coding	OTTHUMT00000357426.2	G	NM_018212		223762279	-1	no_errors	NM_001008493	genbank	human	validated	54_36p	missense	SNP	1.000	T
BOK	666	genome.wustl.edu	37	2	242515696	242515696	+	IGR	SNP	C	C	G	rs150029328	byFrequency	TCGA-36-2551-01A-01D-1526-09	TCGA-36-2551-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e5f3befa-8580-4474-ae47-2eb4c7fdd3d9	e3702893-d7e7-476e-86e0-e3339deda5d3	g.chr2:242515696C>G	ENST00000318407.3	+	0	2650					NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell proliferation (GO:0008283)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|neuron apoptotic process (GO:0051402)|oligodendrocyte differentiation (GO:0048709)|positive regulation of apoptotic process (GO:0043065)|positive regulation of execution phase of apoptosis (GO:1900119)	cytoplasm (GO:0005737)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		cagccttcaactccctcctcc	0.597													C|||	67	0.0133786	0.0023	0.0231	5008	,	,		15827	0.0		0.0239	False		,,,				2504	0.0245															0			2																																								242164369	SO:0001628	intergenic_variant	0			AF174487	CCDS2550.1	2q37.3	2008-05-22			ENSG00000176720	ENSG00000176720			1087	protein-coding gene	gene with protein product		605404				9356461, 11034351, 15102863	Standard	NM_032515		Approved	BCL2L9, BOKL, MGC4631	uc002wbq.3	Q9UMX3	OTTHUMG00000133411		2.37:g.242515696C>G			242164369		Missense_Mutation	SNP	NULL	p.L175V	ENST00000318407.3	37	c.523	CCDS2550.1	2																																																																																			-	NULL		0.597	BOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129675	protein_coding	OTTHUMT00000257268.2	C	NM_032515		242164369	+1	no_errors	XM_001720216	genbank	human	model	54_36p	missense	SNP	0.000	G
